Table 1 Genotype of the study group (n = 44)
From: Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study
Karyotype | Number of patients (%) |
|---|---|
45X | 9 (20.5) |
Mosaic (non-specified) | 9 (20.5) |
45X/46Xi(Xq) | 4 (9) |
45X/46XY | 2 (4.5) |
45X/46XX | 5 (11.4) |
45X/46XX/47XXX | 1 (2.3) |
XX, X, ring chromosome | 1 (2.3) |
45X/46XrX | 3 (6.8) |
45X/47XXX | 3 (6.8) |
Deletion of short arm of X chromosome | 2 (4.5) |
Deletion of long arm of X chromosome | 2 (4.5) |
Mosaic 45X with Y material | 1 (2.3) |
45XO/46XX with complex rearrangement of 2nd X chromosome including SLY gene expression | 1 (2.3) |
46Xi(X)(q10) | 1 (2.3) |